Case PresentationCase Presentation

Presenting historyPresenting history• AC, 12 year old female, referred to Outpatients

• Joint pain for last 18 months Ankles, knees, front of legs Worse on exertion swelling disappearing at the end of the day

• Early morning stiffness Hands and feet Spreading over last few weeks to include ankles and knees

• Worsening handwriting

Further historyRash on back of hands and knuckles for 4

months

Short of breath on exertion

Hair loss for 2 weeks

Weight loss (possibly 3-4 kg) and difficultly with physical activity for 4 months

Examination FindingsExamination Findings

• Pallor

• Scaly rash on nose, elbows and knees and dorsum of great toes, Ulcerating in some area

• Papules on DIPs, PIPs, MCPs

• Painful restriction of movement in ankles, internal rotation of hips, MCPs, DIPs

• Painful flexion of spine

• 3/6 power lower limb, 4/6 in shoulders

Differential diagnosis

Probable Juvenile Dermatomyositis (JDM) Ulcerative rash With possible lung and GI involvement Delayed presentation-over 18 months

Exclude underlying malignancy / infection

InvestigationsInvestigations

• CK normal• ALT 40• AST 77 ↑↑ (normal <50), LDH 1072↑• Phosphate 1.36, Ca 2.20• ESR- 54, CRP <1 • dsDNA Normal, RF negative• ANA positive 1 in 100• IgG, IgA, IgM normal, Anti RO / LA Normal• C3 1.08, C4 0.17 (normal)• Virology all normal

Further investigationsBone marrow normal

Echo / ECG normal

Bronchoscopy normal

HRCT chest –possible some interstitial lung disease

ManagementManagement• 2 groups of 3 IV methylprednisolone pulses

• Maintenance steroids given IV also

• Plan 6 monthly doses cyclophosphamide

• Immediate improvement in condition

• Appetite improved, as well as eating

But….

• Returned with ALT 167 , Phos 0.69

• ?cause low Phosphate – Refeeding syndrome

• Started phosphate supplements

• Urgent dietetic review arranged

Dietary reviewDietary review• Weight noted 2nd centile

• Height 50th centile

• BMI 13.3

• Weight for Height 74%

• Regular electrolytes suggested

• Slowly titrate up polymeric diet against results

The refeeding The refeeding syndromesyndrome

BackgroundBackground

• First described in the 1st century • After World War II, Schnitker documented that

following liberation, 21% of chronically starved Japanese prisoners died despite the provision of ‘‘adequate diet’’ that included vitamin supplementation tarvati

• Starting to eat again after prolonged starvation seemed to precipitate heart failure

• Pathophysiology better described by Keys in 1950 (study participants were starved for 6 months and then fed!)

Pathophysiology• In prolonged starvation (weeks to months), glycogen stores

are expended while proteins are conserved• Switch to Ketone bodies from fatty acids as main energy

source• This results in an intracellular loss of electrolytes, in particular

phosphate (despite possibly normal serum concentrations)• Insulin is suppressed , glucagon is increased• When they start to feed a sudden shift from fat to

carbohydrate metabolism occurs and secretion of insulin increases.

• This stimulates cellular uptake of electrolytes which are already depleted

• Increase in basal metabolic rate

Clinical featuresClinical features

• Importantly, the early clinical features of refeeding syndrome(RFS) are non-specific and may go unrecognised.

• rhabdomyolysis, • leucocyte dysfunction, • respiratory failure, • cardiac failure, • hypotension, • arrhythmias, • seizures, • coma, • sudden death

• It has been reported to occur with many conditions, but never with JDM.

Dealing with RFSDealing with RFS• Understanding amongst general physicians and surgeons is

limited. • Many patients at risk of refeeding syndrome are not treated

on specialist nutrition units. • Measurement of electrolytes may not be done and when

done, a trend may not be noticed, but simply absolute values noted.

• The other barrier is a lack of consensus on treatment.• Despite many single cases reports and discussion papers on

refeeding syndrome, general paucity of guidance, particularly in paediatrics

• An RCT is currently being started at GOS looking at RFS in children, hypothesising that the speed of introduction of nutrition will cause adverse events (Graeme O’connor)

Identifying those at riskIdentifying those at risk

Rapid weight lossNumber of days without nutritionWeight for height <75% of ideal body weight (-

4SD)Extreme risk wt for ht <70%DehydrationBradycardia <45bpmQTc Prolongation

ManagementManagement

• Start feeds at 5-25kcal/kg per day

• Monitor • QTc, BP / temp / pulse, PO4 (1st to drop), Mg2+, K+,

Glucose, Wt gain

• Oral thiamine 200mg bd – to facilitate carbohydrate metabolism

Progress in AC

ALT improved 2 more episodes of dropping phosphate over next

week, as well as 1 episode of low potassium Normal diet within 10 days Did well with cyclophosphamide Recurrence of symptoms Calcinosis in neck On infliximab infusions

Take home message

Refeeding syndrome is possible in any child who has had nutritional depletion, regardless of the cause.

Initial bloods can be completely normal and so vigilance is required, as well as appropriate screening and action to protect high risk patients